Results 211 to 220 of about 2,206,324 (288)

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations. [PDF]

Ther Adv Respir Dis
Ju-Wang JD, Dempsey JC, Zhang C, Doherty D, Witmans M, Tablizo MA, Chen ML.   +6 more
europepmc   +1 more source

MKS1 regulates ciliary INPP5E levels in Joubert syndrome [PDF]

, 2015
Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen Duran, Jonathan Adkins, Sairam A Kumar, Dana Knutzen, Nine Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty   +26 more
openalex   +1 more source

Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case. [PDF]

Cureus
Castellano C, Gomez Rosado JO, Witt A, Simon R, Esharif D.   +4 more
europepmc   +1 more source

Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. [PDF]

Genes (Basel), 2023
Cabrita Pinto RL, Viaggi S, Canale E, Martinez Popple M, Capra V, Conteduca G, Testa B, Coviello D, Covone AE.   +8 more
europepmc   +1 more source

A Better Understanding of Joubert Syndrome [PDF]

Journal of Child Neurology, 1999
openaire   +3 more sources

Joubert syndrome: accuracy of neuro-radiological findings [PDF]

, 2015
Nahla Arab, Yasser R Fahmy, Sattam S. Lingawi   +2 more
openalex   +1 more source

Open isthmus and lambda sign of early Joubert syndrome: elucidating development of molar tooth sign. [PDF]

Ultrasound Obstet Gynecol
Pooh RK, Takeda M, Itoh K, Yoshimatsu J, Ogo K, Machida M, Ohashi H, Shimokawa O.   +7 more
europepmc   +1 more source

Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome

Genetics in Medicine, 2021
Minna Luo, Zaisheng Lin, T. Zhu, Minjun Jin, D. Meng, Ruida He, Zongfu Cao, Yue Shen, Chao Lu, Ruikun Cai, Yongmao Zhao, Xueyan Wang, Hui Li, Shijing Wu, X. Zou, Guanjun Luo, Li Cao, Min Huang, Huike Jiao, Huafang Gao, R. Sui, Chengtian Zhao, Xu Ma, Muqing Cao   +23 more
semanticscholar   +1 more source

A Case of Joubert Syndrome Accompanied with Retinal Abnormality [PDF]

, 2015
Jung Yul Park, Sung Il Kim, Hye Shin Jeon, Hee Young Choi   +3 more
openalex   +1 more source

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa. [PDF]

Pharmgenomics Pers Med
Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY.   +9 more
europepmc   +1 more source